Canonical Allele Identifier: CA415076512
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1385998
ClinVar RCV Id: RCV001889111
dbSNP Id: rs2148358552
gnomAD v4: X-153688722-C-T
MyVariant Identifiers: chrX:g.152954177C>T (hg19) chrX:g.153688722C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688722C>T , CM000685.2:g.153688722C>T GRCh38
NC_000023.10:g.152954177C>T , CM000685.1:g.152954177C>T GRCh37
NC_000023.9:g.152607371C>T NCBI36
NG_012016.1:g.5426C>T
NG_012016.2:g.5426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.148C>T (SLC6A8) MANE Select ENSP00000253122.5:p.Pro50Ser
ENST00000253122.9:c.148C>T (SLC6A8) ENSP00000253122.5:p.Pro50Ser
ENST00000458354.5:c.-3+93G>A (PNCK) ENSP00000401542.1:n.-3+93G>A
ENST00000480693.1:n.64+93G>A (PNCK)
NM_001142805.1:c.148C>T (SLC6A8) NP_001136277.1:p.Pro50Ser
NM_005629.3:c.148C>T (SLC6A8) NP_005620.1:p.Pro50Ser
NM_005629.4:c.148C>T (SLC6A8) MANE Select NP_005620.1:p.Pro50Ser
NM_001142805.2:c.148C>T (SLC6A8) NP_001136277.1:p.Pro50Ser
Search 100 bp 5'
Search 100 bp 3'